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Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp

✍ Scribed by Vasiliki Koukouni; Enza Maria Valente; Carla Cordivari; Kailash P. Bhatia; Niall P. Quinn,

Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 540 KB
Volume: 23
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.21935

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✦ Synopsis

Abstract

Inherited myoclonus dystonia (M‐D, DYT11) is an autosomal dominant dystonia‐plus syndrome, which in many families is caused by mutations in the SGCE/ (epsilon‐sarcoglycan gene. We present a family with M‐D, with an unusual presentation characterized by infantile onset with falls in two sisters and adult‐onset writer's cramp in their father. Myoclonus dystonia is typically characterized by a variable mixture of alcohol‐sensitive myoclonic jerks and dystonia classically affecting mainly the proximal arms and neck. Leg involvement is less frequent, and to our knowledge, initial presentation with falls has not previously been described. The unusual phenotype of the family is discussed. © 2008 Movement Disorder Society.

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